Wednesday, 13 February 2013

When I talk about genetic testing for genealogy I'm sometimes asked about health implications. The testing itself has no health impacts but folks get concerned that based on genetics people might worry needlessly about a higher than normal susceptibility or feel inappropriately reassured when they should continue to take precautions.
I can always tell them that Family Tree DNA tests avoid health-implicated testing but my own view is that such concerns show precious little respect for the intelligence of the average man or woman, and that FTDNA is likely missing testing some genealogically useful SNPs by not testing them.

Now a blog posting from 23andMe points to an article Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing at https://peerj.com/articles/8/ published in a new online journal PeerJ, supporting my opinion.The study conclusion is that

Direct access to BRCA mutation tests, considered a model for high-risk actionable genetic tests of proven clinical utility, provided clear benefits to participants. The unexpected information demonstrated a cascade effect as relatives of newly identified carriers also sought testing and more mutation carriers were identified. Given the absence of evidence for serious emotional distress or inappropriate actions in this subset of mutation-positive customers who agreed to be interviewed for this study, broader screening of Ashkenazi Jewish women for these three BRCA mutations should be considered.

The paper is based on a relatively small sample. Undoubtedly in a large sample there will be some who use the information inappropriately, but should that disbenefit outweigh the benefits reported in this study? And should we be denied the opportunity to know fully about our own DNA for genealogical purposes because some people have qualms?

The article is one of the first published in a new open access journal, PeerJ. Read about it here.